What is Hemochromatosis?

Hemochromatosis is a metabolic disease where your body absorbs too much iron from digested food. The excess iron absorbed gets stored in certain organs and can cause damaging effects. These organs include the liver, heart, and pancreas. When your body contains too much iron it can lead to dangerous, life-threatening conditions such as liver disease, heart problems, and diabetes. Hemochromatosis is an inherited gene which makes it hereditary.

Causes

There are two types of Hemochromatosis, Primary and Secondary. Each type has a different cause.

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Primary Hemochromatosis is caused by a defect in the genes that control how much iron is absorbed from your food. This form of the disease is sometimes called hereditary or classical hemochromatosis and is generally more common than Secondary Hemochromatosis.

The genes that are involved with primary hemochromatosis are called the HFE genes. These genes control how much iron you absorb in your small intestines. If each of your parents have the faulty gene, you have a one in four chance of inhering both faulty genes ( one from each parent.) If you inherit both, you're at risk for having symptoms of Hemochromatosis.

It is estimated that 1 in 10 Americans have one faulty HFE gene. If you have one normal HFE gene and a faulty HFE gene, you are called a "carrier." Carriers don't usually develop the disease but they can pass the faulty gene to their children.

Although less common, other faulty genes cause hemochromatosis. Researchers continue to study what changes to normal genes may cause the disease.

Secondary Hemochromatosis

Secondary Hemochromatosis is caused by another disease or condition that causes iron overload. Some of these conditions are:
  • Thalassemias and Sideroblastic anemia
  • Atransferrinemia and Aceruloplasminemia
  • Chronic liver diseases, such as hepatitis C and alcoholic liver disease
Other factors that can cause Hemochromatosis:
  • Blood Transfusions
  • Oral iron supplements or injections
  • Long term kidney dialysis

Symptoms

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The most common symptoms associated with hemochromatosis include:
- Joint Pain
- Abdominal Pain
- Fatigue
- Weakness
Some later signs of hemochromatosis include:
- Diabetes
- Loss of Sex Drive
- Impotence
- Heart Failure
- Liver Failure
Hemochromatosis is present for both men and women at birth, but for men symptoms aren't experienced until ages 50-60 and for women symptoms aren't experienced until after age 60. For women, symptoms are usually experienced after menopause because they no longer lose iron with menstruation.

How to treat?

Hemochromatosis can be treated by regularly removing blood from the body. This can lower iron levels because iron circulates through the human body by way of red blood cells.

Molecular Basis

Sources

https://www.nhlbi.nih.gov/health/health-topics/topics/hemo/causes
http://www.mayoclinic.org/diseases-conditions/hemochromatosis/home/ovc-20167289
http://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/dxc-20167290